SLC6A1
Function
Mediates transport of gamma-aminobutyric acid (GABA) together with sodium and chloride and is responsible for the reuptake of GABA from the synapse (PubMed:30132828). The translocation of GABA, however, may also occur in the reverse direction leading to the release of GABA (By similarity). The direction and magnitude of GABA transport is a consequence of the prevailing thermodynamic conditions, determined by membrane potential and the intracellular and extracellular concentrations of Na(+), Cl(-) and GABA (By similarity). Can also mediate sodium- and chloride-dependent transport of hypotaurine but to a much lower extent as compared to GABA (By similarity).
Involvement in disease
Myoclonic-atonic epilepsy
MAE
A form of epilepsy characterized by myoclonic-atonic and absence seizures, appearing in early childhood. Patients have delayed development before the onset of seizures and show varying degrees of intellectual disability following seizure onset.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A1 subfamily.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
- Presynapse
- Localized at the presynaptic terminals of interneurons.
Alternative names
GABATR, GABT1, GAT1, SLC6A1, Sodium- and chloride-dependent GABA transporter 1, GAT-1, Solute carrier family 6 member 1